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rs1057516372

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516372(A;G)
Make rs1057516372(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position8806314
GenePMM2
is asnp
is mentioned by
dbSNPrs1057516372
dbSNP (old)rs1057516372
ClinGenrs1057516372
ebirs1057516372
HLIrs1057516372
Exacrs1057516372
Gnomadrs1057516372
Varsomers1057516372
LitVarrs1057516372
Maprs1057516372
PheGenIrs1057516372
Biobankrs1057516372
1000 genomesrs1057516372
hgdprs1057516372
ensemblrs1057516372
gopubmedrs1057516372
geneviewrs1057516372
scholarrs1057516372
googlers1057516372
pharmgkbrs1057516372
gwascentralrs1057516372
openSNPrs1057516372
23andMers1057516372
23andMe allrs1057516372
SNPshotrs1057516372
SNPdbers1057516372
MSV3drs1057516372
GWAS Ctlgrs1057516372
Max Magnitude0
ClinVar
Risk rs1057516372(G;G)
Alt rs1057516372(G;G)
Reference Rs1057516372(A;A)
Significance Probable-Pathogenic
Disease Carbohydrate-deficient glycoprotein syndrome type I
Variation info
Gene PMM2
CLNDBN Carbohydrate-deficient glycoprotein syndrome type I
Reversed 0
HGVS NC_000016.9:g.8900171A>G
CLNSRC
CLNACC RCV000410134.1,